Dual-color fish analysis of breakpoints on robertsonian translocations

Yuri Takahashi, Hiroko Fujita, Yusuke Nakamura, Hiroki Kurahashi

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1 Citation (Scopus)

Abstract

We investigated six Robertsonian translocations, including two cases of rob(13q!4q), one of rob(14q21q), one of rob(13q22q), and two of rob(21q21q), by means of fluorescence in situ hybridization (FISH) using five repetitive DNA probes: two alpha-satellite DNAs (D21Z1/D13Z1 and D14Z1/D22Z1), satellite III DNA, beta-satellite DNA, and ribosomal DNA. Single color FISH successfully denned the breakpoints in four cases of the six. Since the remaining two cases, rob(13q22q) and rob(21q21q), revealed to retain rDNA, we tried to define the breakpoints in detail by dual color FISH in these rare types. In the rob(13q22q) the chromosomal breakage on chromosome 22 was likely to have occurred within the rDNA region and that the chromosome 13 breakpoint was within the alpha-satellite region. In one rob(21q21q) case we denned the breakpoint on one chromosome distal to, or within, the beta-satellite region distal to the rDNA, and the other chromosome breakage had occurred within alpha-satellite DNA. Our results underscored the power of dual-color FISH for defining the precise locations of breakpoints in Robertsonian translocations.

Original languageEnglish
Pages (from-to)507-515
Number of pages9
JournalJapanese Journal of Human Genetics
Volume42
Issue number4
DOIs
Publication statusPublished - 1997
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

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